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Large, linear pigmentation anomaly: an unusual dyspigmentation case.

Ashley Vander Does, Catherine Motosko, Gil Yosipovitch1

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Summary

Segmental pigmentation disorder (SPD) is a rare congenital skin condition. This case explores a potential link between this rare dyspigmentation disorder and melanoma.

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Area of Science:

  • Dermatology
  • Genetics
  • Oncology

Background:

  • Segmental pigmentation anomalies encompass segmental pigmentation disorder (SPD) complex and café-au-lait macules (CALMs).
  • SPD is rare, while CALMs are common and can indicate underlying genetic conditions, especially with multiple lesions or other abnormalities.
  • Segmental CALMs warrant consideration of segmental neurofibromatosis (type V) in differential diagnoses.

Observation:

  • A 48-year-old woman with a history of malignant melanoma presented with a large, congenital, linear hyperpigmented patch on her shoulder and arm.
  • The differential diagnosis included café-au-lait macule (CALM) versus hypermelanosis, a subtype of SPD.
  • A family history of similar lesions and personal/family history of melanoma and cancers prompted genetic testing.

Findings:

  • Hereditary cancer panel testing revealed a genetic variant of uncertain significance.
  • The patient's presentation highlights a rare dyspigmentation disorder.

Implications:

  • This case raises questions about a potential association between rare dyspigmentation disorders like SPD and melanoma.
  • Further research is warranted to understand the genetic underpinnings and clinical significance of such associations.
  • Highlights the importance of considering rare genetic skin conditions in patients with a history of cancer.